Hermansky-Pudlak syndrome (HPS): a rare genetic interstitial lung disease

Hermansky-Pudlak syndrome pulmonary fibrosis (HPS-PF) is a rare cause of genetic interstitial lung disease (ILD). A man in his 40s who has oculocutaneous albinism (OCA) since birth presented with respiratory failure to the intensive care department. On further evaluation, high-resolution CT was suggestive of non-specific interstitial pneumonia (NSIP). In view of the early age of presentation of ILD and OCA, genetic testing was done, which confirmed the diagnosis of HPS. He was treated with oxygen, steroids and antifibrotics. Lung transplantation is the definitive treatment option, and he is being referred for the same.